Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan.

Abstract

Information regarding the clinical outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) for mucopolysaccharidosis (MPS) VI in Asian patients is limited. We reviewed nine Taiwanese patients with MPS VI (four males and five females; age range 1.4-21.1 years) treated with weekly intravenous infusions of rhASB (1.0 mg/kg) for at least 2 years. We assessed the biochemical and clinical response every 3 months. After 2 years of treatment, seven patients experienced improvement over baseline in the 6-min walk by a mean of 69.3 m (27.3%), and seven also increased the 3-min stair climb by a mean of 47 steps (35.7%). Shoulder range of motion in all patients improved, and Joint Pain and Stiffness Questionnaire scores improved by 0.597 points (30.5%). Four patients had improved pulmonary function [forced expiratory volume in 1 s increased by 0.130 L (26.3%) and forced vital capacity by 0.148 L (27.6%)]. The respiratory disturbance index decreased in the four patients who underwent polysomnography. A mean overall 51% decrease in urinary glycosaminoglycan excretion indicated a satisfactory biochemical response. ERT was well tolerated by all patients. This treatment is thus beneficial and appears to be safe for treatment of MPS VI in Taiwanese patients.

• Authors: Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, Chih-Ping Chen, Dar-Shong Lin, Yin-Hsiu Chien, Yu-Yuan Ke, Fuu-Jen Tsai, Hui-Ping Pan, Shio-Jean Lin, Wuh-Liang Hwu, Dau-Ming Niu, Ni-Chung Lee, Shuan-Pei Lin
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 33 Suppl 3 Pg. S421-7 (Dec 2010) ISSN: 1573-2665 [Electronic] United States
• PMID: 20924685 (Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)

Chemical References

• Biomarkers
• Glycosaminoglycans
• Recombinant Proteins
• N-Acetylgalactosamine-4-Sulfatase

Topics

• Adolescent
• Biomarkers (urine)
• Biomechanical Phenomena
• Child
• Child, Preschool
• Enzyme Replacement Therapy
• Exercise Tolerance (drug effects)
• Female
• Forced Expiratory Volume
• Glycosaminoglycans (urine)
• Humans
• Infant
• Lung (drug effects, physiopathology)
• Male
• Mucopolysaccharidosis IV (diagnosis, drug therapy, enzymology, epidemiology, physiopathology)
• N-Acetylgalactosamine-4-Sulfatase (therapeutic use)
• Range of Motion, Articular
• Recombinant Proteins (therapeutic use)
• Recovery of Function
• Retrospective Studies
• Shoulder Joint (drug effects, physiopathology)
• Taiwan (epidemiology)
• Time Factors
• Treatment Outcome
• Vital Capacity
• Young Adult